Varaico: Literature-Extracted Genetic Variants

ASXL1

1,980 papers

RefSeq Summary

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein ...

Pfam Domains

HARE-HTHaa 11–83UCSCHB1, ASXL, restriction endonuclease HTH domain

ASXHaa 236–361UCSCAsx homology domain

PHD_3aa 1483–1539UCSCPHD domain of transcriptional enhancer, Asx

Gene Aliases

HGNC Name

ASXL transcriptional regulator 1

HGNC Alias Symbol

KIAA0978

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015338.6

p.E1245_G1260del0

c.3733_3780del48

Surrounding Variants

2 papers

NM_015338.6

p.E1245*

c.3733G>T

1 paper

NM_015338.6

p.K1244fs

c.3730_3731fs

1 paper

NM_015338.6

p.K1244*

c.3730A>T

1 paper

NM_015338.6

p.V1246_S1262delFs

c.3736_3784del49

1 paper

NM_015338.6

p.K1244_N1256del0

c.3732_3767del36

6 papers

NM_015338.6

p.Q1243R

c.3728A>G

1 paper

NM_015338.6

p.V1246_N1254delFs

c.3738_3762del25

1 paper

NM_015338.6

p.V1246_K1261del0

c.3737_3781del45

1 paper

NM_015338.6

p.Q1243E

c.3727C>G

4 papers

NM_015338.6

p.Q1243*

c.3727C>T

1 paper

NM_015338.6

p.Q1243_N1254delFs

c.3728_3762del35

1 paper

NM_015338.6

p.R1247_K1261delFs

c.3739_3782del44